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JAMA Neurology|August 19, 2014
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxiaBrent L Fogel, Hane Lee, Joshua L Deignan, et al.Journal of Personalized Medicine|March 14, 2014
Personalized Medicine in Ophthalmology: From Pharmacogenetic Biomarkers to Therapeutic and Dosage OptimizationFrank S Ong, Jane Z Kuo, Wei-Chi Wu, et al.American Journal of Medical Genetics. Part A|September 24, 2018
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalisIlina Datkhaeva, Valerie A Arboleda, T Niroshi Senaratne, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2005
Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratoriesElaine B Spector, Wayne W Grody, Carla J Matteson, et al.NPJ Genomic Medicine|September 5, 2017
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformationXiaoyan Ge, Henry Gong, Kevin Dumas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyGlenn E Palomaki, Cosmin Deciu, Edward M Kloza, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2011
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyGlenn E Palomaki, Edward M Kloza, Geralyn M Lambert-Messerlian, et al.Journal of Molecular Medicine (Berlin, Germany)|June 14, 2020
Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transitionYan Zhao, Xuedong Kang, Alexander Barsegian, et al.Prenatal Diagnosis|November 28, 2019
International perspectives on the implementation of reproductive carrier screeningMartin B Delatycki, Fowzan Alkuraya, Alison Archibald, et al.Genes, Chromosomes & Cancer|November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing studyRina Kansal, Xinmin Li, Joseph Shen, et al.Pageof 11